DisGeNET - a database of gene-disease associations

List of shared variants

Motor Neuron Disease, C0085084

Disease: AMYOTROPHIC LATERAL SCLEROSIS 1

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs1475170339	IGFALS ; SPSB3	0.732	0.240	16	1792325	missense variant	T/C;G	snv			18
rs80265967	SOD1	0.732	0.200	21	31667290	missense variant	A/C;T	snv	1.4E-03	1.2E-03	16
rs121912443	SOD1	0.732	0.160	21	31663857	missense variant	A/G	snv			15
rs74315431	VAPB	0.732	0.080	20	58418318	missense variant	C/T	snv	4.0E-06		15
rs121912431	SOD1	0.742	0.160	21	31663829	missense variant	G/A;C	snv			11
rs121912436	SOD1	0.827	0.080	21	31667274	missense variant	G/A;C	snv			7
rs121909342	DCTN1	0.827	0.200	2	74378104	missense variant	C/G;T	snv			5
rs121912437	SOD1	0.851	0.080	21	31667298	missense variant	G/A;C;T	snv			5
rs121912439	SOD1	0.851	0.080	21	31667320	missense variant	A/G	snv			4
rs121912441	SOD1	0.925	0.080	21	31667359	missense variant	T/C	snv	4.8E-05	7.0E-06	2